A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011557



Internal ID18754091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179457255..179490325hg38UCSC Ensembl
Innerchr1:179426390..179459460hg19UCSC Ensembl
Innerchr1:177693013..177726083hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3833071
hg1933071
hg1833071
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv471n100
Supporting Variantsnssv3492092
Samples
Known GenesAXDND1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011557
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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